NM_014498.5:c.1645A>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014498.5(GOLIM4):c.1645A>C(p.Asn549His) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014498.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GOLIM4 | ENST00000470487.6 | c.1645A>C | p.Asn549His | missense_variant | Exon 13 of 16 | 1 | NM_014498.5 | ENSP00000417354.1 | ||
GOLIM4 | ENST00000309027.4 | c.1561A>C | p.Asn521His | missense_variant | Exon 12 of 15 | 1 | ENSP00000309893.4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1645A>C (p.N549H) alteration is located in exon 13 (coding exon 13) of the GOLIM4 gene. This alteration results from a A to C substitution at nucleotide position 1645, causing the asparagine (N) at amino acid position 549 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.